Detalhe da pesquisa
1.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
J Med Genet
; 59(4): 399-409, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34085948
2.
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Hum Mutat
; 41(4): 837-849, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898846
3.
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Ann Neurol
; 86(2): 293-303, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31125140
4.
Herpes simplex virus encephalitis is a trigger of brain autoimmunity.
Ann Neurol
; 75(2): 317-23, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24318406
5.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Genome Med
; 15(1): 68, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37679823
6.
Impact of COVID-19 in Immunosuppressed Children With Neuroimmunologic Disorders.
Neurol Neuroimmunol Neuroinflamm
; 9(1)2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34759018
7.
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Neurology
; 98(9): e912-e923, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35012964
8.
A Validated WISC-V Short-Form to Estimate Intellectual Functioning in Very Preterm Children at Early School Age.
Front Psychol
; 12: 789124, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34975684
9.
Small for Gestational Age Moderate to Late Preterm Children: A Neuropsychological Follow-up.
Dev Neuropsychol
; 46(4): 277-287, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34182841
10.
The Use of Lower or Higher Than Recommended Doses of Folic Acid Supplements during Pregnancy Is Associated with Child Attentional Dysfunction at 4-5 Years of Age in the INMA Project.
Nutrients
; 13(2)2021 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33498619
11.
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.
Orphanet J Rare Dis
; 16(1): 407, 2021 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34600563
12.
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
Genes (Basel)
; 11(1)2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31906484
13.
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy.
Sci Rep
; 10(1): 10111, 2020 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32572108
14.
CT angiography reconstruction of a rotational vertebral artery syndrome.
Arch Dis Child
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38724067
15.
Trimetazidine induces parkinsonism, gait disorders and tremor.
Therapie
; 60(4): 419-22, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16268443
16.
Familial Parkinson's disease: clinical and genetic analysis of four Basque families.
Ann Neurol
; 57(3): 365-72, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15732106
17.
Hemiballism due to sildenafil use.
Neurology
; 63(3): 534, 2004 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-15304588